Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect.
J Infect Dis
; 223(4): 645-654, 2021 02 24.
Article
em En
| MEDLINE
| ID: mdl-33471124
ABSTRACT
CD4 expression identifies a subset of mature T cells primarily assisting the germinal center reaction and contributing to CD8+ T-cell and B-cell activation, functions, and longevity. Herein, we present a family in which a novel variant disrupting the translation-initiation codon of the CD4 gene resulted in complete loss of membrane and plasma soluble CD4 in peripheral blood, lymph node, bone marrow, skin, and ileum of a homozygous proband. This inherited CD4 knockout disease illustrates the clinical and immunological features of a complete deficiency of any functional component of CD4 and its similarities and differences with other clinical models of primary or acquired loss of CD4+ T cells. The first inherited loss of any functional component of CD4, including soluble CD4, is clinically distinct from any other congenital or acquired CD4 T-cell defect and characterized by compensatory changes in T-cell subsets and functional impairment of B cells, monocytes, and natural killer cells.
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Base de dados:
MEDLINE
Assunto principal:
Iniciação Traducional da Cadeia Peptídica
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Antígenos CD4
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Doenças da Imunodeficiência Primária
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Síndromes de Imunodeficiência
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article